ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.790-5G>T

dbSNP: rs377291339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626933 SCV000747636 uncertain significance Seizure; Abnormal cerebral white matter morphology; Unilateral polymicrogyria; Frontoparietal polymicrogyria 2017-01-01 criteria provided, single submitter clinical testing

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